The OCRL gene encodes phosphatidylinositol 4,5-bisphosphate-5-phosphatase and may be involved in such x-linked recessive disorders as Lowe and Dent disease.
The gene encodes en enzyme, 4,5-bisphosphate-5-phosphatase, which is ubiquitously distributed in the Golgi apparatus.
Two different diseases are associated with mutations of the OCRL1 gene. These are Lowe syndrome and Dent disease. The latter however occurs only in some specific mutations.
Pathomechanisms theat link the mutation to the clenical features are not fully understood yet. It is discussed that dysfunction may alter a cell's polarity, which seems to be of particular importance in renal tubular and corneal cells. Also, it is observed that patients urinary megalin excretion is low, which indicates a disturbed recycling process.
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 20 days | |
Specimen type | genomic DNA |
1. |
Hoopes RR et al. (2005) Dent Disease with mutations in OCRL1. |
2. |
Suchy SF et al. (2002) The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. |
3. |
Pendaries C et al. (2003) Phosphoinositide signaling disorders in human diseases. |
4. |
Faucherre A et al. (2003) Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network. |
5. |
AURICCHIO S et al. (1961) [Primary tubulopathies. III. A case of oculo-cerebro-renal syndrome (Lowe syndrome)] |
6. |
Faucherre A et al. (2005) Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology. |
7. |
Choudhury R et al. (2005) Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network. |
8. |
None (2005) Structure and function of the Lowe syndrome protein OCRL1. |
9. |
None (2006) Lowe syndrome. |
10. |
Orphanet article Orphanet ID 123978 |
11. |
NCBI article NCBI 4952 |
12. |
OMIM.ORG article Omim 300535 |
13. |
Wikipedia article Wikipedia EN (OCRL) |